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Article

Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.

American journal of medical genetics. Part A - 1 Dec 2024

Dong Yue, Jia Milan, Tan Shuang, Li Xu-Ying, Song Yang, Wang Xianling, Wang Zhanjun, Wang Chaodong

Abstract excerpt

Autosomal recessive spinocerebellar ataxias (SCARs) are a heterogeneous group of neurodegenerative disorders. VPS13D gene is currently the only gene associated with autosomal recessive spinocerebellar ataxia type 4 (SCAR4), also known as VPS13D dyskinesia. SCAR4 is a rare inherited disease, with only 34 reported cases reported worldwide. In this study, we reported three independent SCAR4 cases with adolescent...

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Identifiers

PMID: 39058251
DOI: 10.1002/ajmg.a.63828

Genes

VPS13D

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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